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CACNA1H

GENERAL INFORMATION

Gene name

 CACNA1H

Gene description

 Calcium channel, voltage-dependent, T type, alpha 1H subunit

Protein class

 Disease related genes
FDA approved drug targets
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

 Membrane

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (ovary)
GTEx:Mixed
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and nuclear expression in several tissues, Most abundant in Leydig cells of testis, stromal cells in ovary and glandular cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Approved based on 1 antibody.
HPA039125
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Ovary

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (ovary)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 CACNA1H (HGNC Symbol)

Synonyms

 Cav3.2

Description

 Calcium channel, voltage-dependent, T type, alpha 1H subunit (HGNC Symbol)

Entrez gene summary

 This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

Chromosome

 16

Cytoband

 p13.3

Chromosome location (bp)

 1153241 - 1221771

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000196557 (version 83.38)

Entrez gene

 8912

UniProt

 O95180 (UniProt - Evidence at protein level)

neXtProt

 NX_O95180

Antibodypedia

 CACNA1H antibodies

PROTEIN BROWSER
CACNA1H-001
CACNA1H-002
CACNA1H-003
CACNA1H-004
CACNA1H-005
CACNA1H-006
CACNA1H-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CACNA1H-001
ENSP00000334198
ENST00000348261
O95180 [Direct mapping]
Voltage-dependent T-type calcium channel subunit alpha-1H
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005216 [ion channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0005901 [caveola]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006936 [muscle contraction]
GO:0007411 [axon guidance]
GO:0007517 [muscle organ development]
GO:0007520 [myoblast fusion]
GO:0008016 [regulation of heart contraction]
GO:0008332 [low voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0032342 [aldosterone biosynthetic process]
GO:0032870 [cellular response to hormone stimulus]
GO:0034220 [ion transmembrane transport]
GO:0034651 [cortisol biosynthetic process]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035865 [cellular response to potassium ion]
GO:0042383 [sarcolemma]
GO:0042391 [regulation of membrane potential]
GO:0046872 [metal ion binding]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
GO:0097110 [scaffold protein binding]
GO:2000344 [positive regulation of acrosome reaction]
Show all
 2353 aa
259.2 kDa 		No >9
CACNA1H-002
ENSP00000455840
ENST00000565831
O95180 [Direct mapping]
Voltage-dependent T-type calcium channel subunit alpha-1H
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005216 [ion channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006936 [muscle contraction]
GO:0007411 [axon guidance]
GO:0007517 [muscle organ development]
GO:0007520 [myoblast fusion]
GO:0008016 [regulation of heart contraction]
GO:0008332 [low voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0032342 [aldosterone biosynthetic process]
GO:0032870 [cellular response to hormone stimulus]
GO:0034220 [ion transmembrane transport]
GO:0034651 [cortisol biosynthetic process]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035865 [cellular response to potassium ion]
GO:0042391 [regulation of membrane potential]
GO:0046872 [metal ion binding]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
GO:0097110 [scaffold protein binding]
GO:2000344 [positive regulation of acrosome reaction]
Show all
 2347 aa
258.5 kDa 		No >9
CACNA1H-003
ENSP00000457555
ENST00000564231
H3BUA8 [Direct mapping]
Voltage-dependent T-type calcium channel subunit alpha-1H
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Show all
GO:0005216 [ion channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0008332 [low voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 1084 aa
119.5 kDa 		No >9
CACNA1H-004
ENSP00000454990
ENST00000569107
H3BNT0 [Direct mapping]
Voltage-dependent T-type calcium channel subunit alpha-1H
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Show all
GO:0005216 [ion channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0008332 [low voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 1100 aa
120.9 kDa 		No >9
CACNA1H-005
ENSP00000454581
ENST00000562079
H3BMW6 [Direct mapping]
Voltage-dependent T-type calcium channel subunit alpha-1H
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Show all
GO:0005216 [ion channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0008332 [low voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 1078 aa
118.9 kDa 		No >9
CACNA1H-006
ENSP00000455512
ENST00000564927
H3BPX6 [Direct mapping]
Voltage-dependent T-type calcium channel subunit alpha-1H
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Show all
GO:0005216 [ion channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0008332 [low voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 897 aa
98.5 kDa 		No 6
CACNA1H-201
ENSP00000351401
ENST00000358590
O95180 [Direct mapping]
Voltage-dependent T-type calcium channel subunit alpha-1H
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005216 [ion channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006936 [muscle contraction]
GO:0007411 [axon guidance]
GO:0007517 [muscle organ development]
GO:0007520 [myoblast fusion]
GO:0008016 [regulation of heart contraction]
GO:0008332 [low voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0032342 [aldosterone biosynthetic process]
GO:0032870 [cellular response to hormone stimulus]
GO:0034220 [ion transmembrane transport]
GO:0034651 [cortisol biosynthetic process]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035865 [cellular response to potassium ion]
GO:0042391 [regulation of membrane potential]
GO:0046872 [metal ion binding]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
GO:0097110 [scaffold protein binding]
GO:2000344 [positive regulation of acrosome reaction]
Show all
 2347 aa
258.5 kDa 		No >9

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.